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Document type:
journal article 
Author(s):
Venco, Paola; Bonora, Massimo; Giorgi, Carlotta; Papaleo, Elena; Iuso, Arcangela; Prokisch, Holger; Pinton, Paolo; Tiranti, Valeria 
Title:
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²?. 
Abstract:
Mutations in C19orf12 have been identified in patients affected by Neurodegeneration with Brain Iron Accumulation (NBIA), a clinical entity characterized by iron accumulation in the basal ganglia. By using western blot analysis with specific antibody and confocal studies, we showed that wild-type C19orf12 protein was not exclusively present in mitochondria, but also in the Endoplasmic Reticulum (ER) and MAM (Mitochondria Associated Membrane), while mutant C19orf12 variants presented a different...    »
 
Journal title abbreviation:
Front Genet 
Year:
2015 
Journal volume:
Pages contribution:
185 
Language:
eng 
Fulltext / DOI:
TUM Institution:
Institut für Humangenetik